1. DR CH. HAREEN

2. CASE
 Baby Azma, an 8th mth old female child, a second
product of non consanguinous marriage came with
complaints of
 Recurrent cold, cough since birth
 Loose motions since 4 days
 Rapid breathing since 1 day
 Maternal history- 2nd gravida, aged 24 yrs.
1st child, female 2 ½ yrs, thriving
Positive TORCH screen, details not
known

3. Birth history
 delivered at term by elective LSCS in view of previous
LSCS
 Baby cried immediately after birth, birth wt- 3.5 kgs
 Developed icterus on 3rd day of life, found to have
high TSB (16, INDIRECT COMPONENT 15.2), referred
to higher centre for evaluation, neonatologist noticed
dysmorphic facies, advised karyotyping.

4. Family history
 No history of similar complaints/ features in family
(evaluated for 3 generations)

5. Developmental milestones
 Gross motor- Rolling over – 7mths (5mths)
Sitting without support-not achieved (6)
• Fine motor- Reaching for objects-6mths (4mths)
Thumb finger grasp-not achieved (8mth)
• Communication & language- social smile- 1mth
babbling- 6mths
• Cognitive- bangs 2 cubes- not achieved- 8mths

7. Approximately one in 1000 live births.

8. Genetics
 Trisomy 21 (47, +21), - 94 %, The frequency of trisomy
increases with increasing maternal age.
 Robertsonian translocation involving chromosome 21-
Approx. 3-4 %, not related to maternal age.
 Trisomy 21 mosaicism – 2 to 3 % cases

11. Clinical Features
 Head and neck
 Brachycephaly with flat occiput
 Flat face
 Up-slanting palpebral fissures
 Epicanthal folds
 Three fontanels
 Delayed fontanel closure- pf not closed completely (2mths)
 Frontal sinus and midfacial hypoplasia
 Brushfield spots
 Mild microcephaly
 Short hard palate
 Flat nasal bridge
 Folded or dysplastic ears
 Open mouth
 Protruding tongue
 Short neck
 Excessive skin at the nape of neck
 Small dysplastic ears

12. Extremities
 Short broad hands
 Short fifth finger
 Incurved fifth finger
 Transverse palmer crease
 Space between first and second toe
 Hyper flexibility of joints

15. Neonatal features
 Flat facial profile  Dysplasia of pelvis
 Poor Moro reflex  Anomalous ears
 Excessive skin at the  Dysplasia of
nape of neck midphalanx of fifth
 Slanted palpebral finger
fissures
 Transverse palmer
 Hypotonia , dec DTR
crease
 Hyper flexibility of
joints

17. Mental Retardation
 Almost all DS babies have MR.
 Mildly to moderately retarded .
 Starts in the first year of life.
 Average age of sitting(11 mon), and walking (26
mon) is twice the typical age.
 First words at 18 months.
 IQ declines through the first 10 years of age,
reaching a plateau in adolescence that continues
into adulthood.

18. Heart Disease
 50 % of Down Syndrome pts have heart disease
 Atrioventricular septal defect
 VSD
 Secundum ASD
 PDA
 Tetrology of Fallot
 Mitral valve prolapse
 AR, MR
 Abarrant subclavian artery
 Endocarditis
 Pulmonary hypertension

19. GI abnormalities
 5% of cases
 Duodenal atresia or stenosis, sometimes assoc
with annular pancreas in 2.5 % of cases
 Annular pancreas
 Imperforate anus
 Esophageal atresia with TE fistula is less common
 Hirschsprung’s disease
 Strong assoc with celiac disease b/w 5 – 16 % , 5 –
16 fold increase as compared to general population
 Delayed tooth eruption- 6 to 8 mths

20. Growth
 BW, length and HC are less in DS
 Reduced growth rate
 Prevalence of obesity is greater in DS
 Weight is less than expected for length in infants with
DS, and then increases disproportionally so that they
are obese by age 3-4 yrs

22. MUSCULO SKELETAL
 Joint hyperflexibility
 Short neck, redundant skin
 Short metacarpals and phalanges
 Short 5th digit and clinodactyly
 Single transverse palmar creases
 Wide gap between first and second toes
 Pelvic dysplasia
 Short sternum
 Two sternal/ manubrium ossification centres
 Atlantoaxial instability
 Hip dysplasia
 Slipped capital femoral epiphyses
 Avascular hip necrosis
 Recurrent joint dislocations (shoulder, elbow, knee, thumb)

23. NEUROPSYCHIATRIC
 Hypotonia
 Developmental delay
 Seizures
 Autism spectrum disorders
 Behavioural disorders
 Depression
 Alzheimers disease

24. Eye problems
Most common disorders are
Refractory error – 35 to 76 percent
Strabismus – 25 to 57 percent
Nystagmus – 18 to 22 percent
Cataract occur in 5 % of newborns.
Glaucoma
Frequency increases with age.

25. Hearing loss
 Unilateral or bilateral
 Conductive, sensorineural or mixed
 Otitis media is a frequent problem

26. Hematologic disorders
 The risk of leukemia is 1 to 1.5 percent.
 65% of newborn have polycythemia resulting in
hypoglycemia.
 Risk of AML and ALL is also much higher than the
general population.
 Transient leukemia – exclusively affects NB.
- It is asymptomatic with spontaneous resolution
in 2-3 months.
- Vesiculopustular skin eruptions are common and
resolve with disorder.

27. Endocrine disorder
 Thyroid disease – Hypothyroidism occurs more
frequently than hyperthyroidism.
 Diabetes – The risk of type 1 diabetes is three
times greater than that of the general population.
 Infertility
 Obesity

28. Reproduction
 Women with DS are fertile and may become
pregnant.
 Nearly all males with DS are infertile. The
mechanism is impairment of spermatogenesis

29. Respiratory
 Obstructive sleep apnea is more common.
 Frequent infections- sinusitis, nasopharyngitis,
pneumonia

30. Skin disorder
 Palmoplantar hyperkeratosis
 Seborreic dermatitis
 Fissured tongue
 Cutis marmorata
 Geographical tongue
 Xerosis
 Perigenital folliculitis

31. HALL CRITERIA
 Flat face
 Upward slanted palpebral fissures
 Small dysplastic ears
 Joint hyperflexibility
 Short neck, redundant skin
 Short 5th digit with clinodactyly
 Single transverse palmar crease
 Pelvic dysplasia
 hypotonia

32. Diagnosis
 Prenatal screening- Nuchal translucency (1st trimester)
Triple test-70%
Quad test-80%
FISH- 100%
 If no screening – It is recognized from the
characteristic phenotypic features.
 Confirmed by Karyotype.

33. Management
1. Growth – Measurements should be plotted on the
appropriate growth chart for children with DS.
This will help in prevention of obesity and early
diagnosis of celiac disease and hypothyroidism.
2. Cardiac disease – All newborns should be
evaluated by cardiac ECHO for CHD in
consultation with pediatric cardiologist.
3. Hearing – Screening to be done in the newborn
period, every 6 months until 3 yrs of age and then
annually.

34. Management (cont.)
4. Eye disorders - An eye exam should be
performed in the newborn period or at least
before 6 months of age to detect strabismus,
nystagmus, and cataracts.
5. Thyroid Function – Should be done in
newborn period and should be repeated at six
and 12 months , and then annually.
6. Celiac Disease – Screening should begin at 2
yrs. Repeat screening if signs/Sx develop.

35. Management ( cont)
7. Hematology – CBC with differential at birth
to evaluate for polycythemia as well as WBC.
8. Atlanto-axial instability – X ray for evidence
of AAI or sub-luxation at 3 to 5 years of age.
9. Alzheimer’s disease – Adult with a Down
Syndrome has earlier onset of symptoms.
When diagnosis is considered, thyroid
disease and possible depression should be
excluded.

36. Mortality
Median age of death has increased from 25
yrs in 1983 to 49 yrs in 1997, an average of 1.7
yrs increase per year.
Most likely cause of death is CHD, Dementia,
Hypothyroidism and Leukemia.
Improved survival is because of increased
placements of infants in homes and
changes in treatment for common causes of
death.
Survival is better for males and blacks.

37. Counseling
 May begin when a prenatal diagnosis is made.
 Discuss the wide range of variability in
manifestation and prognosis.
 Medical and educational treatments and
interventions should be discussed.
 Initial referrals for early intervention, informative
publications, parent groups, and advocacy groups.